{
  "id": 21272,
  "label": "Martinez Monasterio Pinheiro syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0023704",
  "properties": {
    "xrefs": [
      "GARD:0003404",
      "MEDGEN:419330",
      "MESH:C536027",
      "UMLS:C2931089"
    ],
    "synonyms": [
      "cleft lip-palate-oligodontia-syndactyly-hair alterations",
      "cleft lip/palate oligodontia syndactyly hair alterations"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "A form of blepharo-cheilo-dontic syndrome with with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings. This is an n-of-1 use case where only one patient or family has been described with this disorder."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 8734,
      "label": "blepharocheilodontic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        16089,
        19138,
        19756
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080344",
          "GARD:0002071",
          "MEDGEN:349302",
          "MESH:C536188",
          "OMIMPS:119580",
          "Orphanet:1997",
          "SCTID:717911008",
          "UMLS:C1861536",
          "icd11.foundation:755252042"
        ],
        "synonyms": [
          "BCD syndrome",
          "Elsching syndrome",
          "blepharo-cheilo-odontic syndrome",
          "blepharocheilodontic syndrome",
          "clefting-ectropion-conical teeth syndrome",
          "ectropion inferior-cleft lip and or palate syndrome",
          "ectropion inferior-cleft lip and/or palate syndrome",
          "lagophthalmia-cleft lip and palate syndrome",
          "BCDS",
          "BCDS1",
          "Elschnig syndrome",
          "blepharo-cheilo-dontic syndrome",
          "blepharocheilodontic syndrome 1",
          "clefting, ectropion, and conical teeth",
          "ectropion inferior cleft lip and or palate",
          "ectropion, inferior, with cleft lip and/or palate",
          "lagophthalmia with bilateral cleft lip and palate"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth."
      },
      "child_count": 12,
      "reference_id": "MONDO:0007339"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8734,
      "label": "blepharocheilodontic syndrome"
    }
  ]
}